Hereditary Neuropathy_CMT - isolated
Gene: DGAT2
Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model.
Sources: Expert ReviewCreated: 31 Mar 2020, 7:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
axonal Charcot-Marie-Tooth disease
Publications
Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model.Created: 23 Mar 2020, 6 a.m. | Last Modified: 23 Mar 2020, 6 a.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
axonal Charcot-Marie-Tooth disease
Publications
Phenotypes for gene: DGAT2 were changed from HMSN; Autosomal dominant Charcot-Marie-Tooth disease type 2 to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related
Gene: dgat2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: DGAT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: DGAT2 was added gene: DGAT2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DGAT2 were set to 26786738 Phenotypes for gene: DGAT2 were set to HMSN; Autosomal dominant Charcot-Marie-Tooth disease type 2